Incidental Mutation 'PIT4362001:Polr1b'
| ID |
554602 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Polr1b
|
| Ensembl Gene |
ENSMUSG00000027395 |
| Gene Name |
polymerase (RNA) I polypeptide B |
| Synonyms |
Rpo1-2, RPA116, 128kDa, RPA2, D630020H17Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
PIT4362001 (G1)
|
| Quality Score |
139.008 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
128942915-128968514 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 128951212 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 275
(D275G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099494
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028874]
[ENSMUST00000103205]
|
| AlphaFold |
P70700 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028874
AA Change: D275G
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000028874
Gene: ENSMUSG00000027395
AA Change: D275G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNA_pol_Rpb2_1
|
37 |
437 |
4.6e-35 |
PFAM |
|
Pfam:RNA_pol_Rpb2_2
|
186 |
375 |
8.9e-14 |
PFAM |
|
Pfam:RNA_pol_Rpb2_3
|
455 |
521 |
1.4e-28 |
PFAM |
|
Pfam:RNA_pol_Rpa2_4
|
563 |
621 |
3.6e-25 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000103205
AA Change: D275G
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000099494
Gene: ENSMUSG00000027395
AA Change: D275G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNA_pol_Rpb2_1
|
37 |
423 |
1.7e-35 |
PFAM |
|
Pfam:RNA_pol_Rpb2_2
|
186 |
375 |
3.2e-11 |
PFAM |
|
Pfam:RNA_pol_Rpb2_3
|
455 |
520 |
2.1e-29 |
PFAM |
|
Pfam:RNA_pol_Rpa2_4
|
563 |
621 |
4.1e-23 |
PFAM |
|
Pfam:RNA_pol_Rpb2_6
|
670 |
1031 |
9.7e-118 |
PFAM |
|
Pfam:RNA_pol_Rpb2_7
|
1033 |
1135 |
1.2e-22 |
PFAM |
|
| Coding Region Coverage |
- 1x: 93.4%
- 3x: 91.2%
- 10x: 87.0%
- 20x: 78.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Eukaryotic RNA polymerase I (pol I) is responsible for the transcription of ribosomal RNA (rRNA) genes and production of rRNA, the primary component of ribosomes. Pol I is a multisubunit enzyme composed of 6 to 14 polypeptides, depending on the species. Most of the mass of the pol I complex derives from the 2 largest subunits, Rpa1 and Rpa2 in yeast. POLR1B is homologous to Rpa2 (Seither and Grummt, 1996 [PubMed 8921381]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit embryonic lethality prior to implantation. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(18) : Gene trapped(18)
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg1 |
T |
C |
17: 31,283,398 (GRCm39) |
S28P |
possibly damaging |
Het |
| Akr1c14 |
T |
C |
13: 4,129,100 (GRCm39) |
V165A |
probably damaging |
Het |
| Aox1 |
A |
T |
1: 58,321,839 (GRCm39) |
T44S |
probably damaging |
Het |
| Arhgap29 |
T |
A |
3: 121,796,861 (GRCm39) |
N482K |
probably benign |
Het |
| Arhgef38 |
T |
A |
3: 132,866,591 (GRCm39) |
D182V |
|
Het |
| Atad5 |
C |
T |
11: 80,002,393 (GRCm39) |
H1062Y |
probably benign |
Het |
| Atp6v0b |
A |
G |
4: 117,742,453 (GRCm39) |
S147P |
possibly damaging |
Het |
| Cblb |
T |
A |
16: 51,959,905 (GRCm39) |
Y299* |
probably null |
Het |
| Ccdc28b |
T |
C |
4: 129,514,818 (GRCm39) |
N97S |
probably benign |
Het |
| Cdh23 |
A |
G |
10: 60,301,237 (GRCm39) |
V479A |
probably benign |
Het |
| Chuk |
A |
G |
19: 44,087,022 (GRCm39) |
|
probably null |
Het |
| Cmtr2 |
G |
A |
8: 110,948,968 (GRCm39) |
G426D |
probably damaging |
Het |
| Cog4 |
G |
A |
8: 111,593,304 (GRCm39) |
D472N |
probably damaging |
Het |
| Creb3 |
T |
A |
4: 43,565,472 (GRCm39) |
L193* |
probably null |
Het |
| Cxcr6 |
A |
T |
9: 123,639,526 (GRCm39) |
I183F |
probably benign |
Het |
| Dbf4 |
A |
G |
5: 8,453,664 (GRCm39) |
F253L |
probably benign |
Het |
| Dcaf8 |
T |
C |
1: 172,000,364 (GRCm39) |
V174A |
probably damaging |
Het |
| Ddhd2 |
T |
C |
8: 26,225,779 (GRCm39) |
Y526C |
probably damaging |
Het |
| Dnal4 |
A |
G |
15: 79,647,766 (GRCm39) |
V33A |
probably benign |
Het |
| Egfl7 |
C |
T |
2: 26,481,052 (GRCm39) |
P188L |
probably benign |
Het |
| Ephb3 |
A |
G |
16: 21,039,607 (GRCm39) |
E707G |
probably damaging |
Het |
| Epn3 |
C |
T |
11: 94,387,349 (GRCm39) |
R7H |
probably damaging |
Het |
| Fbp1 |
T |
A |
13: 63,015,194 (GRCm39) |
I262F |
probably damaging |
Het |
| Fgfbp3 |
G |
A |
19: 36,896,088 (GRCm39) |
R177* |
probably null |
Het |
| Gask1b |
C |
A |
3: 79,794,246 (GRCm39) |
S238Y |
possibly damaging |
Het |
| Gbp5 |
T |
C |
3: 142,206,471 (GRCm39) |
S52P |
probably damaging |
Het |
| Glb1l2 |
A |
T |
9: 26,685,277 (GRCm39) |
S282T |
probably benign |
Het |
| Glg1 |
A |
T |
8: 111,985,431 (GRCm39) |
V133E |
possibly damaging |
Het |
| Gm4787 |
T |
G |
12: 81,423,949 (GRCm39) |
L736F |
probably benign |
Het |
| Gm5565 |
A |
T |
5: 146,095,109 (GRCm39) |
S212R |
probably benign |
Het |
| Grin2c |
T |
C |
11: 115,140,459 (GRCm39) |
T1220A |
probably benign |
Het |
| Grp |
T |
G |
18: 66,019,297 (GRCm39) |
S133A |
probably benign |
Het |
| Gstp2 |
C |
A |
19: 4,090,713 (GRCm39) |
D147Y |
possibly damaging |
Het |
| Igkv14-130 |
T |
C |
6: 67,768,392 (GRCm39) |
F84L |
probably damaging |
Het |
| Inppl1 |
T |
C |
7: 101,475,220 (GRCm39) |
R944G |
probably benign |
Het |
| Lama2 |
A |
T |
10: 27,245,132 (GRCm39) |
N216K |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,367,882 (GRCm39) |
D210V |
probably damaging |
Het |
| Lrrc2 |
A |
T |
9: 110,791,608 (GRCm39) |
Q120L |
possibly damaging |
Het |
| Lrriq1 |
A |
G |
10: 102,907,055 (GRCm39) |
I1555T |
probably benign |
Het |
| Map2 |
G |
A |
1: 66,451,677 (GRCm39) |
G189D |
probably benign |
Het |
| Mdc1 |
A |
G |
17: 36,155,361 (GRCm39) |
E12G |
possibly damaging |
Het |
| Mdga2 |
T |
C |
12: 66,844,542 (GRCm39) |
D152G |
possibly damaging |
Het |
| Med23 |
A |
G |
10: 24,750,469 (GRCm39) |
M99V |
probably benign |
Het |
| Mutyh |
G |
A |
4: 116,674,267 (GRCm39) |
V273M |
probably damaging |
Het |
| Neurod2 |
T |
A |
11: 98,218,708 (GRCm39) |
Y152F |
probably damaging |
Het |
| Or5d3 |
C |
T |
2: 88,174,357 (GRCm39) |
A247T |
probably benign |
Het |
| Or5g25 |
A |
C |
2: 85,478,068 (GRCm39) |
L199R |
probably damaging |
Het |
| Or8c20 |
G |
T |
9: 38,260,494 (GRCm39) |
L32F |
probably benign |
Het |
| Pcdh20 |
G |
C |
14: 88,704,462 (GRCm39) |
P946R |
probably damaging |
Het |
| Pde6b |
T |
C |
5: 108,571,451 (GRCm39) |
|
probably null |
Het |
| Pdzrn4 |
A |
T |
15: 92,667,762 (GRCm39) |
D638V |
possibly damaging |
Het |
| Rnf157 |
T |
A |
11: 116,251,143 (GRCm39) |
D127V |
probably damaging |
Het |
| Rspo4 |
T |
A |
2: 151,709,803 (GRCm39) |
C69* |
probably null |
Het |
| Scara3 |
T |
C |
14: 66,173,851 (GRCm39) |
T63A |
probably benign |
Het |
| Scn2a |
G |
A |
2: 65,514,182 (GRCm39) |
E289K |
probably benign |
Het |
| Sh3gl2 |
A |
G |
4: 85,295,786 (GRCm39) |
T163A |
probably benign |
Het |
| Slc2a10 |
T |
A |
2: 165,358,213 (GRCm39) |
F446Y |
probably damaging |
Het |
| Snapc1 |
C |
T |
12: 74,029,269 (GRCm39) |
R351C |
probably damaging |
Het |
| Snx6 |
A |
G |
12: 54,814,815 (GRCm39) |
Y169H |
possibly damaging |
Het |
| Stab2 |
A |
T |
10: 86,697,299 (GRCm39) |
C1996* |
probably null |
Het |
| Steap4 |
A |
G |
5: 8,030,337 (GRCm39) |
T398A |
probably benign |
Het |
| Tep1 |
A |
T |
14: 51,103,510 (GRCm39) |
L260Q |
probably benign |
Het |
| Tspan12 |
A |
T |
6: 21,835,463 (GRCm39) |
V70D |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,569,362 (GRCm39) |
A27177V |
probably damaging |
Het |
| Ube3a |
T |
C |
7: 58,925,870 (GRCm39) |
V237A |
possibly damaging |
Het |
| Vil1 |
G |
A |
1: 74,460,542 (GRCm39) |
R233H |
probably damaging |
Het |
| Xrcc5 |
A |
G |
1: 72,433,088 (GRCm39) |
T716A |
probably benign |
Het |
| Zbp1 |
A |
G |
2: 173,058,783 (GRCm39) |
I18T |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,807,524 (GRCm39) |
V1845A |
probably benign |
Het |
| Zfp407 |
A |
T |
18: 84,579,393 (GRCm39) |
N573K |
possibly damaging |
Het |
| Zfp64 |
T |
C |
2: 168,767,735 (GRCm39) |
T626A |
probably benign |
Het |
|
| Other mutations in Polr1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00489:Polr1b
|
APN |
2 |
128,967,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00559:Polr1b
|
APN |
2 |
128,955,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00659:Polr1b
|
APN |
2 |
128,960,020 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00672:Polr1b
|
APN |
2 |
128,967,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01066:Polr1b
|
APN |
2 |
128,961,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01536:Polr1b
|
APN |
2 |
128,967,475 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01596:Polr1b
|
APN |
2 |
128,952,046 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02156:Polr1b
|
APN |
2 |
128,965,799 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL02398:Polr1b
|
APN |
2 |
128,944,886 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02797:Polr1b
|
APN |
2 |
128,944,899 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02965:Polr1b
|
APN |
2 |
128,967,443 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL03009:Polr1b
|
APN |
2 |
128,967,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03092:Polr1b
|
APN |
2 |
128,965,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03129:Polr1b
|
APN |
2 |
128,957,627 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03138:Polr1b
|
UTSW |
2 |
128,944,908 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0038:Polr1b
|
UTSW |
2 |
128,957,588 (GRCm39) |
nonsense |
probably null |
|
|
R0038:Polr1b
|
UTSW |
2 |
128,957,588 (GRCm39) |
nonsense |
probably null |
|
|
R0989:Polr1b
|
UTSW |
2 |
128,967,997 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1508:Polr1b
|
UTSW |
2 |
128,955,654 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1539:Polr1b
|
UTSW |
2 |
128,960,019 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1700:Polr1b
|
UTSW |
2 |
128,965,041 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1843:Polr1b
|
UTSW |
2 |
128,944,886 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1920:Polr1b
|
UTSW |
2 |
128,943,031 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2414:Polr1b
|
UTSW |
2 |
128,945,054 (GRCm39) |
splice site |
probably benign |
|
|
R3020:Polr1b
|
UTSW |
2 |
128,957,601 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3837:Polr1b
|
UTSW |
2 |
128,961,027 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4466:Polr1b
|
UTSW |
2 |
128,965,802 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4773:Polr1b
|
UTSW |
2 |
128,947,248 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4789:Polr1b
|
UTSW |
2 |
128,951,257 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5027:Polr1b
|
UTSW |
2 |
128,965,803 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5579:Polr1b
|
UTSW |
2 |
128,952,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5705:Polr1b
|
UTSW |
2 |
128,947,271 (GRCm39) |
nonsense |
probably null |
|
|
R6303:Polr1b
|
UTSW |
2 |
128,957,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6313:Polr1b
|
UTSW |
2 |
128,967,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6427:Polr1b
|
UTSW |
2 |
128,965,181 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6677:Polr1b
|
UTSW |
2 |
128,962,131 (GRCm39) |
intron |
probably benign |
|
|
R7033:Polr1b
|
UTSW |
2 |
128,957,562 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7163:Polr1b
|
UTSW |
2 |
128,967,931 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7184:Polr1b
|
UTSW |
2 |
128,965,842 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7376:Polr1b
|
UTSW |
2 |
128,960,993 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7453:Polr1b
|
UTSW |
2 |
128,967,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7545:Polr1b
|
UTSW |
2 |
128,959,766 (GRCm39) |
splice site |
probably null |
|
|
R7770:Polr1b
|
UTSW |
2 |
128,967,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7772:Polr1b
|
UTSW |
2 |
128,967,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7774:Polr1b
|
UTSW |
2 |
128,967,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7776:Polr1b
|
UTSW |
2 |
128,967,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7777:Polr1b
|
UTSW |
2 |
128,967,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7814:Polr1b
|
UTSW |
2 |
128,967,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7825:Polr1b
|
UTSW |
2 |
128,967,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7826:Polr1b
|
UTSW |
2 |
128,967,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7827:Polr1b
|
UTSW |
2 |
128,967,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7828:Polr1b
|
UTSW |
2 |
128,947,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7959:Polr1b
|
UTSW |
2 |
128,950,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8082:Polr1b
|
UTSW |
2 |
128,957,652 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8251:Polr1b
|
UTSW |
2 |
128,965,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8696:Polr1b
|
UTSW |
2 |
128,967,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8711:Polr1b
|
UTSW |
2 |
128,943,064 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8746:Polr1b
|
UTSW |
2 |
128,954,597 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8823:Polr1b
|
UTSW |
2 |
128,967,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8872:Polr1b
|
UTSW |
2 |
128,957,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8901:Polr1b
|
UTSW |
2 |
128,967,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8963:Polr1b
|
UTSW |
2 |
128,957,576 (GRCm39) |
missense |
probably benign |
|
|
R9488:Polr1b
|
UTSW |
2 |
128,967,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9499:Polr1b
|
UTSW |
2 |
128,957,684 (GRCm39) |
nonsense |
probably null |
|
|
R9550:Polr1b
|
UTSW |
2 |
128,962,205 (GRCm39) |
missense |
unknown |
|
|
R9551:Polr1b
|
UTSW |
2 |
128,957,684 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCATTAAGGTTATGAGAGGCTC -3'
(R):5'- ACATACTTAAGCAGGAACTCGG -3'
Sequencing Primer
(F):5'- TTATGAGAGGCTCAGTGCAGC -3'
(R):5'- TAAGCAGGAACTCGGCAGCTTC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation